BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Colorectal Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 AlteredExpression disease BEFREE Taken together, the findings of this study provide the first evidence that cancer-linked DNA hypomethylation and cytosolic BLM mislocalization might reflect compromised levels of DNA-repair activity and enhanced hypersensitivity to DNA-damaging agents in CRC patients. 27169843 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 GeneticVariation disease BEFREE To evaluate CRC and endometrial cancer risk in BLM heterozygous mutation carriers. 28647934 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 GeneticVariation disease BEFREE Therefore, these data indicate that carriers of deleterious BLM mutations are at increased risk to develop CRC, albeit with a moderate-to-low penetrance. 26358404 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 GeneticVariation disease BEFREE Although none of them showed a significant association with CRC, the association of BLM P868L with rectal cancer risk requires further investigation. 19945966 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 Biomarker disease BEFREE To investigate these issues, we used gene-targeting techniques to disrupt the BLM gene in karyotypically stable colorectal cancer epithelial cells. 14695165 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 GeneticVariation disease BEFREE In contrast to the homozygous mutations of Bloom syndrome, heterozygous carriers of BLM mutations may be at increased risk for developing colorectal cancer. 12702560 2003